MESD wt Allele

Preferred Label : MESD wt Allele;

NCIt synonyms : BOCA; Mesoderm Development LRP Chaperone wt Allele; UNQ1911/PRO4369; Mesoderm Development Candidate 2 Gene; KIAA0081; MESDC2;

NCIt definition : Human MESD wild-type allele is located in the vicinity of 15q25.1 and is approximately 44 kb in length. This allele, which encodes LDLR chaperone MESD protein, plays a role in the modulation of the folding of low-density lipoprotein receptor family proteins. A patient with infantile sacrococcygeal teratoma was found to have a balanced chromosomal translocation t(12;15)(q13;q25) which fuses this gene and the SENP1 gene.;

GenBank Accession Number : D42039;

Details

Origin ID

C98088;

UMLS CUI

C3273810;

OMIM relation
- Mesoderm development lrp chaperone [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 15q25.1 [NCIt concept]
gene_plays_role_in_process
- Heat-Shock Response [NCIt concept]
- Protein Folding [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Unfolded Protein Response [NCIt concept]

Keyword's position in hierarchy(ies) :

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